ClinVar

NM_016038.4(SBDS):c.258+2T>C

Gene:

SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 66994210 (on Assembly GRCh38)
• Chr7: 66459197 (on Assembly GRCh37)

Preferred name:

NM_016038.4(SBDS):c.258+2T>C

Other names:

c.258+2T>C

HGVS:

• NC_000007.14:g.66994210A>G
• NG_007277.1:g.6392T>C
• NG_033069.1:g.2406A>G
• NM_016038.4:c.258+2T>CMANE SELECT
• LRG_104t1:c.258+2T>C
• LRG_104:g.6392T>C
• NC_000007.13:g.66459197A>G
• NM_016038.2:c.258+2T>C
• NM_016038.2:c.[258+2T>C]
• NM_016038.3:c.258+2T>C

This HGVS expression did not pass validation

Nucleotide change:

IVS2DS, T-C, +2

Links:

OMIM: 607444.0002; dbSNP: rs113993993

NCBI 1000 Genomes Browser:

rs113993993

Molecular consequence:

• NM_016038.4:c.258+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

effect on RNA splicing [Variation Ontology: 0362]

Observations:

14